An acute life-threatening episode of rhabdomyolysis, renal failure, altered mental status and hyperammonemia in an adult with 3-methylcrotonyl-CoA carboxylase deficiency
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Elsevier BV
Reference8 articles.
1. Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism;Eldjarn;Lancet,1970
2. Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency-report from the inborn Errors of metabolism information system;Forsyth;Mol. Genet. Metab.,2016
3. 3-Methylcrononyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening;Ficicioglu;Pediatrics,2006
4. 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals;Grünert;Orphanet J. Rare Dis.,2012
5. Disorders of branched chain amino acid metabolism;Manoli;Transl. Sci. Rare Dis.,2016
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